Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 6
Results: 11
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.
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- Human Mutation, 1997, v. 9, n. 6, p. 537, doi. 10.1002/(SICI)1098-1004(1997)9:6<537::AID-HUMU7>3.0.CO;2-Z
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An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene.
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- Human Mutation, 1997, v. 9, n. 6, p. 567, doi. 10.1002/(SICI)1098-1004(1997)9:6<567::AID-HUMU11>3.0.CO;2-0
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Screening for ESR mutations in breast and ovarian cancer patients.
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- Human Mutation, 1997, v. 9, n. 6, p. 531, doi. 10.1002/(SICI)1098-1004(1997)9:6<531::AID-HUMU6>3.0.CO;2-4
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Mutations in the adrenoleukodystrophy gene.
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- Human Mutation, 1997, v. 9, n. 6, p. 500, doi. 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5
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Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
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- Human Mutation, 1997, v. 9, n. 6, p. 563, doi. 10.1002/(SICI)1098-1004(1997)9:6<563::AID-HUMU10>3.0.CO;2-0
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The clinical spectrum of type IV collagen mutations.
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- Human Mutation, 1997, v. 9, n. 6, p. 477, doi. 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#
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Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
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- Human Mutation, 1997, v. 9, n. 6, p. 526, doi. 10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0.CO;2-#
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Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies.
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- Human Mutation, 1997, v. 9, n. 6, p. 555, doi. 10.1002/(SICI)1098-1004(1997)9:6<555::AID-HUMU9>3.0.CO;2-0
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DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
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- Human Mutation, 1997, v. 9, n. 6, p. 519, doi. 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X
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NF1 mutation analysis using a combined heteroduplex/SSCP approach.
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- Human Mutation, 1997, v. 9, n. 6, p. 548, doi. 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y
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